Incidental Mutation 'R1230:Ccdc88c'
ID 152273
Institutional Source Beutler Lab
Gene Symbol Ccdc88c
Ensembl Gene ENSMUSG00000021182
Gene Name coiled-coil domain containing 88C
Synonyms Daple, 0610010D24Rik
MMRRC Submission 039299-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1230 (G1)
Quality Score 147
Status Not validated
Chromosome 12
Chromosomal Location 100877782-100995315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100914747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 496 (Y496N)
Ref Sequence ENSEMBL: ENSMUSP00000082177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068411] [ENSMUST00000085096] [ENSMUST00000223235]
AlphaFold Q6VGS5
Predicted Effect probably benign
Transcript: ENSMUST00000068411
AA Change: Y496N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: Y496N

DomainStartEndE-ValueType
Pfam:HOOK 7 586 5.9e-37 PFAM
low complexity region 601 613 N/A INTRINSIC
low complexity region 617 634 N/A INTRINSIC
Blast:BRLZ 668 719 3e-8 BLAST
low complexity region 724 744 N/A INTRINSIC
low complexity region 827 837 N/A INTRINSIC
low complexity region 847 866 N/A INTRINSIC
Blast:BRLZ 948 1007 6e-15 BLAST
coiled coil region 1035 1085 N/A INTRINSIC
low complexity region 1095 1110 N/A INTRINSIC
coiled coil region 1129 1252 N/A INTRINSIC
coiled coil region 1312 1384 N/A INTRINSIC
low complexity region 1430 1439 N/A INTRINSIC
low complexity region 1510 1524 N/A INTRINSIC
low complexity region 1562 1583 N/A INTRINSIC
low complexity region 1698 1709 N/A INTRINSIC
internal_repeat_1 1721 1778 6.97e-6 PROSPERO
low complexity region 1788 1808 N/A INTRINSIC
internal_repeat_1 1934 1989 6.97e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000085096
AA Change: Y496N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: Y496N

DomainStartEndE-ValueType
Pfam:HOOK 13 597 2.5e-41 PFAM
low complexity region 608 620 N/A INTRINSIC
low complexity region 624 641 N/A INTRINSIC
Blast:BRLZ 675 726 3e-8 BLAST
low complexity region 731 751 N/A INTRINSIC
low complexity region 834 844 N/A INTRINSIC
low complexity region 854 873 N/A INTRINSIC
Blast:BRLZ 955 1014 5e-15 BLAST
coiled coil region 1042 1092 N/A INTRINSIC
low complexity region 1102 1117 N/A INTRINSIC
coiled coil region 1136 1259 N/A INTRINSIC
coiled coil region 1319 1391 N/A INTRINSIC
low complexity region 1437 1446 N/A INTRINSIC
low complexity region 1517 1531 N/A INTRINSIC
low complexity region 1569 1590 N/A INTRINSIC
low complexity region 1705 1716 N/A INTRINSIC
internal_repeat_1 1728 1785 6.57e-6 PROSPERO
low complexity region 1795 1815 N/A INTRINSIC
internal_repeat_1 1941 1996 6.57e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221309
Predicted Effect probably benign
Transcript: ENSMUST00000223235
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cyp11b1 A G 15: 74,712,791 (GRCm39) I90T probably benign Het
Cyp4f14 C A 17: 33,135,762 (GRCm39) R33L probably benign Het
Dcc G A 18: 71,815,384 (GRCm39) P330L probably damaging Het
Dnm1 T C 2: 32,205,921 (GRCm39) N64D probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Ecm1 A T 3: 95,642,738 (GRCm39) probably null Het
Enam A G 5: 88,641,927 (GRCm39) Y247C probably damaging Het
Ess2 C T 16: 17,727,814 (GRCm39) V122M probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hrc A G 7: 44,985,887 (GRCm39) D346G possibly damaging Het
Kdm5b T G 1: 134,540,992 (GRCm39) C695G probably damaging Het
Lrig3 A G 10: 125,838,840 (GRCm39) D449G probably damaging Het
Mrps31 C T 8: 22,909,759 (GRCm39) P142S possibly damaging Het
Ppm1k T C 6: 57,502,059 (GRCm39) T35A probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Vangl1 T A 3: 102,065,609 (GRCm39) I509L probably benign Het
Vcpip1 A G 1: 9,795,449 (GRCm39) V974A probably damaging Het
Xdh T C 17: 74,198,251 (GRCm39) E1212G probably damaging Het
Zfp62 T C 11: 49,105,926 (GRCm39) S6P probably damaging Het
Other mutations in Ccdc88c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Ccdc88c APN 12 100,883,062 (GRCm39) missense probably benign 0.04
IGL02016:Ccdc88c APN 12 100,907,466 (GRCm39) missense possibly damaging 0.63
IGL02031:Ccdc88c APN 12 100,899,570 (GRCm39) missense probably damaging 0.98
IGL02133:Ccdc88c APN 12 100,906,349 (GRCm39) missense probably damaging 1.00
IGL02427:Ccdc88c APN 12 100,887,851 (GRCm39) missense probably damaging 1.00
IGL02494:Ccdc88c APN 12 100,911,734 (GRCm39) missense probably benign
IGL02496:Ccdc88c APN 12 100,919,552 (GRCm39) missense probably benign 0.05
IGL02549:Ccdc88c APN 12 100,895,191 (GRCm39) missense probably benign 0.18
IGL02618:Ccdc88c APN 12 100,879,812 (GRCm39) missense probably benign 0.28
IGL02626:Ccdc88c APN 12 100,934,059 (GRCm39) unclassified probably benign
IGL03142:Ccdc88c APN 12 100,913,457 (GRCm39) missense probably damaging 1.00
BB010:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
BB020:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
R0127:Ccdc88c UTSW 12 100,901,999 (GRCm39) missense possibly damaging 0.88
R0533:Ccdc88c UTSW 12 100,920,541 (GRCm39) missense probably damaging 1.00
R0545:Ccdc88c UTSW 12 100,913,447 (GRCm39) missense probably damaging 1.00
R0866:Ccdc88c UTSW 12 100,879,451 (GRCm39) missense probably benign 0.01
R1434:Ccdc88c UTSW 12 100,905,425 (GRCm39) splice site probably benign
R1614:Ccdc88c UTSW 12 100,879,243 (GRCm39) missense probably benign 0.00
R1644:Ccdc88c UTSW 12 100,879,733 (GRCm39) missense probably damaging 0.98
R1712:Ccdc88c UTSW 12 100,905,284 (GRCm39) missense probably benign 0.14
R2107:Ccdc88c UTSW 12 100,887,808 (GRCm39) missense probably benign
R3612:Ccdc88c UTSW 12 100,905,332 (GRCm39) missense probably damaging 0.99
R3724:Ccdc88c UTSW 12 100,896,783 (GRCm39) missense possibly damaging 0.80
R3737:Ccdc88c UTSW 12 100,896,783 (GRCm39) missense possibly damaging 0.80
R3743:Ccdc88c UTSW 12 100,914,843 (GRCm39) missense probably damaging 1.00
R3772:Ccdc88c UTSW 12 100,932,359 (GRCm39) unclassified probably benign
R3776:Ccdc88c UTSW 12 100,913,438 (GRCm39) missense probably damaging 0.97
R3917:Ccdc88c UTSW 12 100,907,366 (GRCm39) critical splice donor site probably null
R4034:Ccdc88c UTSW 12 100,896,783 (GRCm39) missense possibly damaging 0.80
R4035:Ccdc88c UTSW 12 100,896,783 (GRCm39) missense possibly damaging 0.80
R4110:Ccdc88c UTSW 12 100,911,332 (GRCm39) missense probably damaging 1.00
R4113:Ccdc88c UTSW 12 100,911,332 (GRCm39) missense probably damaging 1.00
R4270:Ccdc88c UTSW 12 100,913,478 (GRCm39) missense probably damaging 1.00
R4271:Ccdc88c UTSW 12 100,913,478 (GRCm39) missense probably damaging 1.00
R4520:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4521:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4522:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4523:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4524:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4717:Ccdc88c UTSW 12 100,882,925 (GRCm39) missense probably benign 0.00
R4821:Ccdc88c UTSW 12 100,904,338 (GRCm39) missense probably benign 0.00
R4823:Ccdc88c UTSW 12 100,896,802 (GRCm39) missense probably damaging 1.00
R5090:Ccdc88c UTSW 12 100,920,439 (GRCm39) missense probably damaging 1.00
R5510:Ccdc88c UTSW 12 100,911,290 (GRCm39) missense probably damaging 1.00
R5514:Ccdc88c UTSW 12 100,879,698 (GRCm39) missense probably damaging 1.00
R5903:Ccdc88c UTSW 12 100,896,801 (GRCm39) missense probably damaging 1.00
R5999:Ccdc88c UTSW 12 100,934,613 (GRCm39) missense probably damaging 1.00
R6131:Ccdc88c UTSW 12 100,907,387 (GRCm39) missense probably damaging 1.00
R6164:Ccdc88c UTSW 12 100,919,642 (GRCm39) missense probably damaging 0.98
R6971:Ccdc88c UTSW 12 100,920,486 (GRCm39) missense probably damaging 1.00
R6998:Ccdc88c UTSW 12 100,883,111 (GRCm39) missense probably damaging 0.96
R7031:Ccdc88c UTSW 12 100,911,323 (GRCm39) missense probably damaging 1.00
R7240:Ccdc88c UTSW 12 100,911,198 (GRCm39) missense probably benign 0.17
R7366:Ccdc88c UTSW 12 100,911,209 (GRCm39) missense possibly damaging 0.89
R7604:Ccdc88c UTSW 12 100,896,806 (GRCm39) missense probably damaging 1.00
R7674:Ccdc88c UTSW 12 100,911,491 (GRCm39) missense probably benign 0.00
R7795:Ccdc88c UTSW 12 100,889,570 (GRCm39) missense probably benign 0.32
R7933:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
R7990:Ccdc88c UTSW 12 100,934,244 (GRCm39) missense probably damaging 1.00
R8339:Ccdc88c UTSW 12 100,907,399 (GRCm39) nonsense probably null
R8734:Ccdc88c UTSW 12 100,906,394 (GRCm39) missense probably damaging 1.00
R8778:Ccdc88c UTSW 12 100,911,483 (GRCm39) missense probably benign 0.25
R8925:Ccdc88c UTSW 12 100,932,676 (GRCm39) missense possibly damaging 0.55
R8927:Ccdc88c UTSW 12 100,932,676 (GRCm39) missense possibly damaging 0.55
R9014:Ccdc88c UTSW 12 100,879,323 (GRCm39) missense probably benign 0.09
R9204:Ccdc88c UTSW 12 100,904,322 (GRCm39) missense unknown
R9257:Ccdc88c UTSW 12 100,889,474 (GRCm39) missense possibly damaging 0.94
R9326:Ccdc88c UTSW 12 100,995,109 (GRCm39) start gained probably benign
R9424:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
R9439:Ccdc88c UTSW 12 100,884,597 (GRCm39) missense probably benign 0.25
R9539:Ccdc88c UTSW 12 100,901,993 (GRCm39) missense possibly damaging 0.89
R9576:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
Z1176:Ccdc88c UTSW 12 100,912,029 (GRCm39) missense possibly damaging 0.69
Z1177:Ccdc88c UTSW 12 100,911,414 (GRCm39) missense probably benign
Z1190:Ccdc88c UTSW 12 100,889,591 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAGCAGGTAAATGCAGCCACG -3'
(R):5'- AGCAGGGTTCCCAAAATGCTAGAC -3'

Sequencing Primer
(F):5'- TTTCCACAGCAGGAAATGTGC -3'
(R):5'- TAGACCCTAACGGACTCGG -3'
Posted On 2014-01-29